ORPHA:93258
Pfeiffer syndrome type 1
Synonyms: Classic Pfeiffer syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
This disease is described under Pfeiffer syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pfeiffer syndrome type 1 | Classic Pfeiffer syndrome |
| fr | Syndrome de Pfeiffer type 1 | Syndrome de Pfeiffer classique |
| de | Pfeiffer-Syndrom Typ 1 | Pfeiffer-Syndrom, klassisches |
| es | Síndrome de Pfeiffer tipo 1 | Síndrome de Pfeiffer clásico |
| it | Sindrome di Pfeiffer, tipo 1 | Sindrome di Pfeiffer classica |
| nl | Syndroom van Pfeiffer type 1 | Klassiek syndroom van Pfeiffer |
| pt | Síndrome Pfeiffer tipo 1 | Síndrome Pfeiffer clássico |
| pl | Zespół Pfeiffera typu 1 | Klasyczny zespół Pfeiffera |
| cs | Pfeifferův syndrom, typ 1 | Klasický Pfeifferův syndrom |
| uk | Синдром Пфайффера, тип 1 | Класичний синдром Пфайффера |
| zh | Pfeiffer综合征1型 | 经典Pfeiffer综合征 |
| tr | Pfeiffer sendromu tip 1 | Klasik Pfeiffer sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 101600 | NTBT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD24.G0 | NTBT | index | validated |
| MONDO | 0019659 | E | validated | |
| UMLS | C5438812 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:710Pfeiffer syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders; rare bone diseases
No children.
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR2 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3689 | ENSG00000066468 | 176943 | 10q26.13 | fibroblast growth factor receptor 2 | 20301628[PMID] |
| FGFR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3688 | ENSG00000077782 | 136350 | 8p11.23 | fibroblast growth factor receptor 1 | 20301628[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0011318 | Bicoronal synostosis | |
| HP:0000248 | Brachycephaly | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0011304 | Broad thumb | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0008080 | Hallux varus | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0011800 | Midface retrusion | |
| HP:0010109 | Short hallux | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0006101 | Finger syndactyly | |
| HP:0000369 | Low-set ears | |
| HP:0000520 | Proptosis | |
| HP:0001773 | Short foot | |
| HP:0004279 | Short palm | |
| HP:0001770 | Toe syndactyly | |
| Occasional (29-5%) | ||
| HP:0002410 | Aqueductal stenosis | |
| HP:0000365 | Hearing impairment | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93258
- This record as JSON: /data/d/93258.json